Comprehensive cDNA study and quantitative transcript analysis of mutantOPA1transcripts containing premature termination codons
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.20607/fullpdf
Reference39 articles.
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2. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28;Alexander;Nat Genet,2000
3. Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy;Baris;Hum Mutat,2003
4. Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage;Bateman;Hum Mol Genet,2003
5. Dominant juvenile optic atrophy;Caldwell;Arch Ophthalmol,1971
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